Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.K128*
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HBA2

NM_000517.6:p.K128*

Associated Papers

Hematological Profile of Hb Adana Among High School Students in Northeast Peninsular Malaysia.

Siti Asmaa MJ et al.

Cureus, 2024

Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.

Tamana S et al.

Elife, 2022

36453528 (PubMed )
Supplement: elife-79713-supp2.xlsx › Input-HBA2

mRNA Analysis of Frameshift Mutations with Stop Codon in the Last Exon: The Case of Hemoglobins Campania [α1 cod95 (-C)] and Sciacca [α1 cod109 (-C)].

Cardiero G et al.

Biomedicines, 2021

Severe α-Thalassemia Due to Compound Heterozygosity for Hb Adana (α59 Gly>Asp) (HBA1: c.179G > A) and Codon 127 (A > T) (HBA2: c.382A > T) in an Iranian Family.

Azimi A et al.

Hemoglobin, 2020

Molecular diagnosis of α-thalassemia in a multiethnic population.

Gilad O et al.

European Journal of Haematology, 2017

A novel alpha-thalassemia nonsense mutation in HBA2: C.382 A > T globin gene.

Hamid M et al.

Archives of Iranian Medicine, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."